Variant report

Variant	rs58986282
Chromosome Location	chr11:71790480-71790481
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:71789401-71793053	Hela-S3	cervix:	n/a	n/a
2	GTF3C2	chr11:71789779-71790869	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:71790476-71790646	HepG2	liver:	n/a	n/a
4	TEAD4	chr11:71789900-71790485	K562	blood:	n/a	n/a
5	MAX	chr11:71790132-71790681	K562	blood:	n/a	n/a
6	RFX5	chr11:71789843-71792994	SK-N-SH	brain:	n/a	chr11:71791859-71791873 chr11:71791862-71791871 chr11:71791858-71791873 chr11:71791625-71791634
7	RPC155	chr11:71790092-71790861	Hela-S3	cervix:	n/a	n/a
8	MAX	chr11:71789955-71792157	Hela-S3	cervix:	n/a	chr11:71791862-71791871 chr11:71791321-71791331 chr11:71791604-71791614
9	HA-E2F1	chr11:71790220-71792507	MCF-7	breast:	n/a	chr11:71791941-71791948 chr11:71791941-71791948 chr11:71791513-71791524 chr11:71791937-71791949 chr11:71791941-71791948 chr11:71791559-71791570 chr11:71790929-71790938 chr11:71791603-71791612 chr11:71791940-71791949
10	RPC155	chr11:71790096-71790858	K562	blood:	n/a	n/a
11	MYC	chr11:71790198-71792172	K562	blood:	n/a	chr11:71791862-71791871 chr11:71791321-71791331 chr11:71791604-71791614
12	NR2F2	chr11:71789952-71792410	K562	blood:	n/a	n/a
13	YY1	chr11:71790200-71790487	K562	blood:	n/a	n/a
14	JUND	chr11:71789996-71792416	K562	blood:	n/a	chr11:71791624-71791633 chr11:71791316-71791325 chr11:71791317-71791326 chr11:71791315-71791324 chr11:71791313-71791322 chr11:71791314-71791323
15	MXI1	chr11:71789278-71792440	SK-N-SH	brain:	n/a	n/a
16	ZNF384	chr11:71790422-71792308	K562	blood:	n/a	n/a
17	TBP	chr11:71790084-71790489	K562	blood:	n/a	n/a
18	MXI1	chr11:71789407-71792636	IMR90	lung:	n/a	n/a
19	MYC	chr11:71790082-71792117	K562	blood:	n/a	chr11:71791862-71791871 chr11:71791321-71791331 chr11:71791604-71791614

No.	Distal block	Cell Line	Cell type
1	chr11:71780787..71782950-chr11:71789834..71792937,3	MCF-7	breast:
2	chr11:71789600..71791756-chr11:71798522..71801102,2	MCF-7	breast:
3	chr11:71707937..71711570-chr11:71790035..71793811,3	K562	blood:
4	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
5	chr11:71750510..71752098-chr11:71789258..71791823,2	K562	blood:
6	chr11:71735775..71738006-chr11:71790062..71791994,2	MCF-7	breast:
7	chr11:71748762..71757629-chr11:71789138..71799261,28	MCF-7	breast:
8	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
9	chr11:71789782..71790620-chr9:132459733..132460339,2	Hela-S3	cervix:
10	chr11:71781171..71786362-chr11:71787519..71793039,9	K562	blood:
11	chr11:71789330..71791508-chr11:71823256..71824800,2	MCF-7	breast:

Variant related genes	Relation type
LRTOMT	TF binding region
ENSG00000212089	TF binding region
ENSG00000137496	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000206783	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000238768	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10400327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1892922	1.00[AMR][1000 genomes]
rs2096784	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57198333	1.00[AMR][1000 genomes]
rs5743667	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743673	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743683	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743684	1.00[AMR][1000 genomes]
rs58109845	1.00[AMR][1000 genomes]
rs58569034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58860532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59603657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59704482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60401386	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840528	1.00[AMR][1000 genomes]
rs61225837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7925196	1.00[AMR][1000 genomes]
rs7945535	1.00[AMR][1000 genomes]
rs7949845	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71780600-71790800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:71781800-71791000	Weak transcription	Aorta	Aorta
3	chr11:71783600-71790800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:71783600-71790800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:71783800-71790600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:71783800-71790600	Weak transcription	Gastric	stomach
7	chr11:71784400-71790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:71785800-71790600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:71786600-71790800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:71789000-71790800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:71789000-71790800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:71789400-71790600	Enhancers	HSMMtube	muscle
13	chr11:71789400-71791000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:71789400-71792200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:71789400-71792800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:71789600-71790600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr11:71789600-71790600	Enhancers	Fetal Heart	heart
18	chr11:71789600-71791000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:71789600-71791200	Flanking Active TSS	HUVEC	blood vessel
20	chr11:71789600-71791800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:71789600-71792000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:71789600-71792400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:71789600-71792600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:71789800-71790600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:71789800-71790600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:71789800-71790600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr11:71789800-71790800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:71789800-71790800	Flanking Active TSS	Fetal Stomach	stomach
29	chr11:71789800-71791000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:71789800-71791000	Flanking Active TSS	HSMM	muscle
31	chr11:71789800-71791200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:71789800-71792000	Active TSS	Stomach Smooth Muscle	stomach
33	chr11:71789800-71792400	Active TSS	Fetal Kidney	kidney
34	chr11:71789800-71792800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr11:71790000-71790600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:71790000-71790600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:71790000-71790600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:71790000-71790800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:71790000-71790800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:71790000-71791800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:71790000-71792000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:71790000-71792000	Active TSS	Esophagus	oesophagus
43	chr11:71790000-71792200	Active TSS	Right Atrium	heart
44	chr11:71790000-71792400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:71790000-71792400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:71790000-71792600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:71790000-71792600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:71790000-71792600	Active TSS	Psoas Muscle	Psoas
49	chr11:71790200-71790600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr11:71790200-71790600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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